SLC16A12, MCT12, Monocarboxylate transporter 12, MCT 12, Solute carrier family 16 member 12
This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010],disease:Defects in SLC16A12 are a cause of cataract juvenile with microcornea and glucosuria (CJMG) [MIM:612018]. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.,function:Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates.,similarity:Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.,tissue specificity:Most highly expressed in kidney, followed by retina, lung, and testis. Very weakly expressed in brain and liver. Also detected in lens.,
